..1%) in our population, suggesting that occurrence of this mutation may vary amongst different ethnic races. This has important clinical implication when implementing guidelines for genetic testing...

Comparing knowledge and attitudes towards genetic testing in Parkinson's disease in an American and Asian population

..However, in vivo functional studies and segregation analysis in large pedigrees will be needed to determine if these single heterozygous variants represent rare mutations, risk alleles or benign polymorphisms...

..Dysfunction of the efferent and/or afferent thalamic or striatopallidal tracts may play a role in bruxism. Early recognition of bruxism following stroke could reduce unnecessary suffering since the condition can be effectively treated...

Analysis of MDR1 haplotypes in Parkinson's disease in a white population

..The relationship between a number of primary sleep disorders and Parkinson's disease (PD) is still debated. There are limited case control polysomnographic studies in PD and most of these study sample sizes are small...

..However, the pathological basis why the facial region was selectively involved in our patient is unclear. Early recognition of the symptoms and signs would facilitate investigations for an underlying cause...

..0 +/- 5.0 vs. 11.0 +/- 6.0; P = 0.001) following appropriate management. As stress and anxiety can aggravate HFS, diagnosis and early management of anxiety symptoms can improve quality of life in these patients...

..We highlight the first case of LRRK2 R1441C mutation in late onset sporadic PD of non-European ancestry. Furthermore, extensive mutational screen found LRRK2 mutations to be rare among patients who presented with PSP, MSA, CBGD, and AP...

..The identification of the LRRK2 Gly2385Arg variant could potentially facilitate the development of clinical, bioimaging, genetic and biological biomarkers, useful in the monitoring and neuroprotective therapy in asymptomatic individuals...

..99 (95% CI 0.84-1.16, p=0.88). A multivariate logistic regression analysis showed that family history, UCHL1 variant and the interaction of UCHL1 variant and age at onset (p=0.816) were not significantly associated with PD...

Association between caffeine intake and risk of Parkinson's disease among fast and slow metabolizers

..Both caffeine and its main metabolite, paraxanthine, may be neuroprotective. The association between caffeine intake and risk of Parkinson's disease (PD) in fast and slow caffeine metabolizers has not been compared...

Treatment outcome correlates with knowledge of disease in hemifacial spasm

..In our Asian population, patients with PD were 5 to 10 times more likely to have ET compared to diseased and healthy controls, suggesting that the association of ET and PD is unlikely to be ethnicity-specific...

..78-2.9). A higher frequency of G2385R carriers has been observed in familial PD when compared with sporadic patients. Based on current evidence, certain common genetic variants are likely to modulate the risk of PD...

..5% vs 16.7%) and genotype frequency was not significantly different between Alzheimer's disease (AD) and controls. Logistic regression analysis did not reveal any interaction between ApoE4 allele and CALHM1 allele...

..Penetrance of some of the recurrent mutations is incomplete and may vary with age. Further research to unravel the etiopathology could identify biochemical or genetic markers for potential neuroprotective trials...

Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus

..Clinico-radiologic correlates utilizing advanced imaging techniques have not been systematically examined in bilateral HFS. The prevalence of bilateral HFS in an Asian population has not been clarified...

Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore

..Our findings suggest that SCA 2 is relatively common amongst the Malay race and that priority testing for SCA 3 and SCA 2 for ethnic Chinese, and SCA 2 for ethnic Malay, may be cost effective and relevant for the region...

..In conclusion, while RLS-like symptoms were observed in some patients with thyroid disorders, our study demonstrates no significant difference of RLS prevalence between patients with thyroid disorders and euthyroid controls...

..0001) with risk of PD after correction for the effects of age, sex, and the other polymorphic loci. Specific four-loci and six-loci haplotypes were significantly associated with an increased or decreased risk of PD...

..The MAO B G/A genotype frequency in our Asian population was quite different from Caucasians suggesting that ethnicity specific effects need to be considered in evaluating gene-environmental interaction...

..These findings suggest that in the absence of other supportive clinical or imaging features, the cost-effectiveness of routine fragile X tremor/ataxia syndrome screening in this Asian cohort with movement disorders was low...

Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity

..Altered splicing of parkin under cellular stress could lead to changes in gene expression and altered protein activity. The causative role of parkin in sporadic Parkinson's disease (PD) is unknown...

..This case of a 59-year-old man who developed CMD following bilateral paramedian and bilateral cerebellar infarcts illustrates the lack of anatomic specificity and the diverse pathophysiology which may underlie CMD...

An urge to move with L-thyroxine: clinical, biochemical, and polysomnographic correlation

..0001). The severity of CTS was not significantly associated with the motor restlessness. Our observations suggest that entrapment syndromes such as CTS can be associated with a form of restlessness in the hands, analogous to RLS...

..G2385R and p.R1628P showed higher kinase activity than wild type. We provided the first evidence that multiple LRRK2 variants exert an individual effect and together modulate the risk of PD among Chinese...

..RLS did not play an important role in sleep dysfunction in our PD cohort. A high index of suspicion for sleep problems in advanced PD patients is important as early management could improve their quality of life...

..We report an elderly lady with intractable focal seizure who presented with more than a year of persistent hand spasms. The clinical importance of differentiating epilepsy from movement disorders is discussed...

Renin-angiotensin system gene polymorphisms: its impact on IgAN and its progression to end-stage renal failure among Chinese in Singapore

..Several studies on Caucasian and Japanese had reported contradicting results. We determined these polymorphisms in 118 Chinese patients with IgAN and 94 healthy Chinese to assess their clinical impact...

..Several studies on Caucasians and Japanese patients have reported contradictory results. We determined these polymorphisms in 118 Chinese patients with IgAN and 94 healthy Chinese subjects to assess their clinical impact...

..001, chi2 14.3). Our study suggests that family history information reported by ET patients was inaccurate, and poorly validated. Clinical and genetic studies in ET should take the limitation of family history data into consideration...

DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West

..While a 3-bp deletion in the DYT1 gene is the most frequent cause of early limb-onset, generalized dystonia, it has also been found in non-generalized forms of sporadic dystonia. An 18-bp deletion in the DYT1 gene has also been reported...

..Green tea drinking was unrelated to Parkinson's disease risk. Diet had no strong influence on risk. Ingredients of black tea other than caffeine appear to be responsible for the beverage's inverse association with Parkinson's disease...

Impaired motor imagery in patients with essential tremor: a case control study